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Sketetal dysplasia coarse facies mental retardation

December 31, 2014

Latest Research

  • A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs
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  • A Novel Homozygous Frameshift Variant in <em>DYM</em> Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients
  • Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III
  • Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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